[Disorders associated with alterations in single peroxisomal proteins, including X-linked adrenoleukodystrophy].

Abstract:

:X-linked adrenoleukodystrophy is the prototype of the disorders that involve a single peroxisomal protein, and it is by far the most common peroxisomal disorder. The gene that is defective in this disorder is a peroxisomal membrane protein involved, in an as yet undefined manner, in the degradation of very long chain fatty acids. All of the peroxisomal disorders can be identified pre- and postnatally by non-invasive tests.

journal_name

Rev Neurol

journal_title

Revista de neurologia

authors

Moser HW

subject

Has Abstract

pub_date

1999-01-01 00:00:00

pages

S55-8

eissn

0210-0010

issn

1576-6578

journal_volume

28 Suppl 1

pub_type

杂志文章
  • [Benign neonatal sleep myoclonus].

    abstract:OBJECTIVE:To evaluate the clinical, electro-encephalographic and evolutionary characteristics of a series of patients diagnosed as having benign neonatal sleep myoclonus (BNSM). MATERIAL AND METHODS:The clinical histories of 21 patients with BNSM were analyzed. Criteria for inclusion in the study were: neonates who ha...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Caraballo R,Yépez I,Cersósimo R,Fejerman N

    更新日期:1998-04-01 00:00:00

  • [Carlevoix-Saguenay type recessive spastic ataxia. A report of a Spanish case].

    abstract:OBJECTIVE:To present the first Spanish case, perhaps the first non-Canadian, with ataxia type Charlevoix-Saguenay. CLINICAL CASE:A patient with important psychomotor delay and non-progressive ataxia has been studied in our Service during the first years of life and his follow-up has been carried out until 30 years of ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Pascual-Castroviejo I,Pascual-Pascual SI,Viaño J,Martínez V

    更新日期:2000-07-01 00:00:00

  • Review of the novelties presented at the 27th Congress of the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) (II).

    abstract::The new insights presented at the 5th Joint Triennial Congress of the European and Americas Committees on Treatment and Research in Multiple Sclerosis (ECTRIMS and ACTRIMS) held in Amsterdam, the Netherlands, 19-22 October 2011, have been summarized at the fourth edition of Post-ECTRIMS meeting held in Madrid in Novem...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Fernandez O,Alvarez-Cermeno JC,Arroyo-Gonzalez R,Brieva L,Calles-Hernandez MC,Casanova-Estruch B,Comabella M,de las Heras V,Garcia-Merino JA,Hernandez-Perez MA,Izquierdo G,Meca-Lallana JE,Munoz-Garcia D,Olascoaga J,Oreja-Guev

    更新日期:2012-06-16 00:00:00

  • [Locomotion and gait disorders].

    abstract:INTRODUCTION:Human beings are characterised by the specialisation of certain functions, such as language or the ability to walk. We have achieved this capacity thanks to the development of multiple connections among different areas of the central and peripheral nervous system, together with adaptation of the musculoske...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: García-Morales V,González-Fernández J,Prieto-Tedejo R,Velasco-Palacios L,Cubo-Delgado E

    更新日期:2009-01-23 00:00:00

  • [Neuropsychological findings in patients with middle temporal lobe epilepsy].

    abstract:INTRODUCTION:Cognitive dysfunction in mesial temporal lobe epilepsy (MTLE) is still a controversial subject. Since refractory MTLE is considered a surgically remediable syndrome, the neuropsychological assessment to establish the presence of cognitive impairment in the surgical candidate became an important issue, give...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Allegri RF,Drake M,Thomson A

    更新日期:1999-12-16 00:00:00

  • [Metabolic approach in epileptic encephalopathies in infants].

    abstract:INTRODUCTION:Although the overall incidence of inborn errors of metabolism is low, their early diagnosis is essential, since some of them have a specific treatment. DEVELOPMENT:We review the main treatable inborn errors of metabolism that can present as early-onset epileptic encephalopathies, together with their bioch...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Lopez-Marin L

    更新日期:2017-05-17 00:00:00

  • [Clinical stabilisation in neurodegenerative diseases: clinical study in phase II].

    abstract:INTRODUCTION:Neurodegenerative disorders, such as Parkinson's disease (PD), Alzheimer's disease (AD) and multiple sclerosis (MS), are progressive pathological conditions in which current treatments have not proved to be effective at curbing their progress (clinical stabilisation). Although they have very different clin...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: de Font-Réaulx Rojas E,Dorazco-Barragan G

    更新日期:2010-05-01 00:00:00

  • [Riluzole as a treatment for amyotrophic lateral sclerosis].

    abstract:INTRODUCTION:The Amyotrophic Lateral Sclerosis (ALS) is a disease characterized by the selective degeneracy of the superior motoneurons of the cortex motor and of the inferior motoneurons at level of the encephalic trunk and spinal marrow. Exist sporadic and familiar forms, being estimated an incidence of 1-2 cases by ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Borrás-Blasco J,Plaza-Macías I,Navarro-Ruiz A,Perís-Martí J,Antón-Cano A

    更新日期:1998-12-01 00:00:00

  • [Neurological assessment of learning disorders].

    abstract:INTRODUCTION:The neurological concept of learning is approached from a cybernetic point of view, taking into account that a child should recognize a fact, learn it semantically and decided whether it is worth storing; the dynamic aspect of memory is the true motor of the ability to learn and all this is modulated by th...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Campos-Castelló J

    更新日期:1998-08-01 00:00:00

  • [Late-onset migraine equivalent with prolonged aura and altered brain perfusion].

    abstract:TITLE:Equivalente migrañoso de inicio tardío con aura prolongada y alteración de la perfusión cerebral. : ...

    journal_title:Revista de neurologia

    pub_type: 信件

    doi:10.33588/rn.7011.2019333

    authors: Mayà-Casalprim G,Rudilosso S,Serrano E,Reyes-Leiva D,Escudero-Rubí D,Obach-Baurier V

    更新日期:2020-06-01 00:00:00

  • [Ulysses in the medical literature].

    abstract:INTRODUCTION:Cultural manifestations are frequently used as a source of descriptors in the field of the health sciences. The story of Odysseus (Ulysses) is one of the oldest and most influential works of world literature and has given rise to many subsequent creations, with strong roots in popular culture. AIMS:To con...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:10.33588/rn.7103.2020187

    authors: Puy-Núñez A,Guitián-Pena A,Pías-Peleteiro JM,Aldrey JM,Macías-Arribi M

    更新日期:2020-08-01 00:00:00

  • [First tonic clonic generalized seizure: recurrence, and prognosis factors].

    abstract:OBJECTIVE:Previous epidemiologic studies have shown that around 5% of the population will suffer a tonic clonic seizure during their life. The aim of this study is to know how many and which of these people will suffer a second seizure and become epileptic. PATIENTS AND METHODS:175 patients seen in the emergency depar...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Falip-Centellas M,Rovira RM,Gratacós-Vinyola M,Lluís C,Pérez-Pérez S,Padró-Ubeda L

    更新日期:2002-05-16 00:00:00

  • [Congenital hydrocephalus].

    abstract:INTRODUCTION:Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. DEVELOPMENT:The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of c...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Malagón-Valdez J

    更新日期:2006-04-10 00:00:00

  • [Severe asymptomatic carotid stenosis: a neurological perspective].

    abstract::Asymptomatic carotid stenosis is a relatively frequent pathology, although when considering the possibility of managing it surgically, there is still an important amount of disagreement concerning the criteria to be taken into account. This study conducts a broad examination of the condition, from its concept and epid...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: de la Cruz-Cosme C,Segura T

    更新日期:2012-09-01 00:00:00

  • [Brain regulation of food intake and expenditure energy: molecular action of insulin, leptin and physical exercise].

    abstract:INTRODUCTION:Overweight and obesity present significant public health concerns because of the link with numerous chronic health conditions. During the last ten years, since the discovery of leptin, great advances were obtained in the characterization oh the hypothalamic mechanisms involved in the control of food intake...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Cintra DE,Ropelle ER,Pauli JR

    更新日期:2007-12-01 00:00:00

  • [Acute necrotizing encephalopathy].

    abstract:TITLE:Encefalopatia necrotizante aguda. : ...

    journal_title:Revista de neurologia

    pub_type: 信件

    doi:10.33588/rn.6908.2019113

    authors: Trujillo-Gomez J,Cabrera-Hemer DN

    更新日期:2019-10-16 00:00:00

  • [Acute non-traumatic myelopathy in children and adolescents].

    abstract::The term 'acute myelopathies'--referred to a spinal cord dysfunction--represent a heterogeneous group of disorders with distinct etiologies, clinical and radiologic features, and prognoses. The objective of this review is to discuss the non-traumatic acute myelopathies. Acute myelopathy can be due to several causes as...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Arroyo HA

    更新日期:2013-09-06 00:00:00

  • [Selective attention disorders associated with a history of occupational exposure to organic solvents].

    abstract:INTRODUCTION:The cognitive effects of long-term exposure to organic solvents could be similar to those triggered by certain neurodegenerative diseases. AIMS:The purpose of this study was to evaluate the effects exerted by accumulated exposure on the cognitive functions. PATIENTS AND METHODS:105 subjects with an avera...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Mayor-Ríos J,del Castillo-Martín N,López-Hernández V,Galán-García L,Suárez-Murias C,Charró-Ruiz L

    更新日期:2003-12-01 00:00:00

  • [Factorial structure of the dysexecutive questionnaire in a sample of the Spanish population with acquired brain injury and memory deficit complaints].

    abstract:INTRODUCTION AND AIMS:The dysexecutive questionnaire (DEX) has been used to study executive deficits in both clinical samples (both psychiatric and neurological) and non-clinical samples, although agreement on its factorial structure is lacking. The aim of this research is to study that structure in the self-administer...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Luna-Lario P,Seijas-Gómez R,Tirapu-Ustárroz J,Hernáez-Goñi P,Mata-Pastor I

    更新日期:2012-12-01 00:00:00

  • [Devic's optic neuromyelitis: analysis of 7 cases].

    abstract:INTRODUCTION:Devic's optic neuromyelitis is an unusual condition characterized by the association of unilateral or bilateral optic neuritis and myelitis, both of which are relapsing. Prognosis is usually poor, both for the optic nerve and for the spinal medulla which becomes cavitated. This leads to severe handicap and...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Sebastián de la Cruz F,López-Dolado E

    更新日期:1999-03-01 00:00:00

  • [From neuronal recovery to the reorganisation of neuronal circuits: a review of the functions of sleep].

    abstract:AIM:To analyse the data and concepts that have been produced in relation to one of the functions that have been suggested for sleep, namely, neuronal recovery. DEVELOPMENT:Sleep is a state of consciousness that is different to that of arousal. Mammals devote an important part of their lives to sleeping; for example, a...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Montes-Rodríguez CJ,Rueda-Orozco PE,Urteaga-Urías E,Aguilar-Roblero R,Prospero-García O

    更新日期:2006-10-01 00:00:00

  • [Opsoclonus myoclonus syndrome: how long are we going to go on researching?].

    abstract:INTRODUCTION:Opsoclonus myoclonus is a rare neurological syndrome affecting children and adults, and which is characterised by a sudden onset of chaotic eye movements and myoclonias. In children it generally appears before the age of three as a parainfectious or paraneoplasic process; the type of tumour most frequently...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Ramos S,Temudo T

    更新日期:2002-08-16 00:00:00

  • [Frontal lobe epilepsy in infancy: is there a benign partial frontal lobe epilepsy?].

    abstract:INTRODUCTION:Only the organic and cryptogenic forms of frontal lobe epilepsy have been admitted by the ILAE, but according to several reports in the literature, it probably exists also an idiopathic form, at present not well recognized. OBJECTIVE:To study the differences between the organic and the cryptogenic forms o...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Martín-Santidrian MA,Garaizar C,Prats-Viñas JM

    更新日期:1998-06-01 00:00:00

  • [Wallenberg syndrome: a review of 25 cases].

    abstract:INTRODUCTION:Wallenberg's syndrome is one of the most common clinically recognized conditions due to brain stem infarct, which can nowadays be identified thanks to modern neuro-imaging techniques. We present a retrospective study of 25 cases admitted to our hospital in the past eight years, to evaluate epidemiological ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Rigueiro-Veloso MT,Pego-Reigosa R,Brañas-Fernández F,Martínez-Vázquez F,Cortés-Laíño JA

    更新日期:1997-10-01 00:00:00

  • [Intraparenchymatous hemorrhagic pathology in patients aged over seventy: a comparative study with younger subjects].

    abstract::The aim of our study was to compare a group of over 70 year-old patients suffering from spontaneous intracerebral haemorrhage with a similarly affected group under 70 years of age. With this in mind we carried out a prospective study of all patients admitted to the Neurology Service at the Virgen de la Arrixaca Hospit...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Moltó JM,Moreno A,Martínez-García F,Morales A,Fernández-Barreiro A

    更新日期:1996-02-01 00:00:00

  • [Workshop on electroretinography and visual evoked potentials].

    abstract::Studies of vision using electrophysiological techniques are tests which record functional alterations in very early phases of a disease. Full field flash ERG evaluates the integrity of the cones, rods and bipolar cells. It is obtained by photopsic stimulation with Ganzfeld and contact lens corneal electrodes or, alter...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Ucles Moreno P

    更新日期:2003-02-15 00:00:00

  • [Easing access to all information should be mandatory to medical journals].

    abstract:TITLE:Facilitar el acceso a toda la informacion debe ser una obligacion para las revistas medicas. : ...

    journal_title:Revista de neurologia

    pub_type: 信件

    doi:

    authors: Dal-Re R,Ayuso C

    更新日期:2018-02-16 00:00:00

  • [Is there a relationship between white matter lesions associated with migraine and patent foramen ovale? Analysis of a series of patients with chronic migraine].

    abstract:INTRODUCTION:White matter lesions are more prevalent in migraine patients than in the general population, especially those with a high frequency of attacks. A patent foramen ovale has been described as a possible link between migraine and white matter lesions. AIM:To determine the existence of a possible relationship ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:10.33588/rn.7010.2019435

    authors: Larrosa-Campo D,Meilán-Martínez A,Ramón-Carbajo C,Santamarta-Liébana E,Saiz-Ayala A,Martínez-Camblor P,Cernuda-Morollón E,Pascual J

    更新日期:2020-05-16 00:00:00

  • [Central nervous system infection by free-living amebas: report of 3 Venezuelan cases].

    abstract:INTRODUCTION:Infection of the Central Nervous System by free living amebas is an unusual event, 344 cases have been reported to date. The disease becomes evident in two different clinical fashions: Primary Amebic Meningoencephalitis (PAM) caused by Naegleria fowleri and Granulomatous Amebic Encephalitis (GAE) induced b...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Rodríguez R,Méndez O,Molina O,Luzardo G,Martínez AJ,Visvesvara GS,Cardozo J

    更新日期:1998-06-01 00:00:00

  • [Glutamate and Alzheimer's disease].

    abstract:AIM:To analyze the importance of the neurotransmitter glutamate in the pathogenesis of Alzheimer's disease (AD). DEVELOPMENT:Elements of the physiological glutamatergic neurotransmission are reviewed, such as the neuronal types that utilize it, glutamatergic receptors and their characteristics, and glutamate transport...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Gazulla J,Cavero-Nagore M

    更新日期:2006-04-01 00:00:00